Genome-wide association analysis identifies six new loci associated with forced vital capacity
Genome-wide association analysis identifies six new loci associated with forced vital capacity
Forced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52,253 individuals from 26 studies and followed up the top associations in 32,917 additional individuals of European ancestry. We found six new regions associated at genome-wide significance (P < 5 × 10−8) with FVC in or near EFEMP1, BMP6, MIR129-2–HSD17B12, PRDM11, WWOX and KCNJ2. Two loci previously associated with spirometric measures (GSTCD and PTCH1) were related to FVC. Newly implicated regions were followed up in samples from African-American, Korean, Chinese and Hispanic individuals. We detected transcripts for all six newly implicated genes in human lung tissue. The new loci may inform mechanisms involved in lung development and the pathogenesis of restrictive lung disease.
Couto Alves, Alexessander
87b9179e-abde-4ca5-abfc-4b7c5ac8b03b
Loth, Daan W.
9de42ce0-e808-47b9-901a-e170781d466e
Artigas, María Soler
94c8730d-36f4-4266-885f-9335845fe558
Gharib, Sina A
7ac54181-0115-40b0-960f-531ecf3d3b6d
Wain, Louise V.
6dc1efe6-03df-48cc-bb19-0527ad74e801
15 June 2014
Couto Alves, Alexessander
87b9179e-abde-4ca5-abfc-4b7c5ac8b03b
Loth, Daan W.
9de42ce0-e808-47b9-901a-e170781d466e
Artigas, María Soler
94c8730d-36f4-4266-885f-9335845fe558
Gharib, Sina A
7ac54181-0115-40b0-960f-531ecf3d3b6d
Wain, Louise V.
6dc1efe6-03df-48cc-bb19-0527ad74e801
et al.
(2014)
Genome-wide association analysis identifies six new loci associated with forced vital capacity.
Nature Genetics.
(doi:10.1038/ng.3011).
Abstract
Forced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52,253 individuals from 26 studies and followed up the top associations in 32,917 additional individuals of European ancestry. We found six new regions associated at genome-wide significance (P < 5 × 10−8) with FVC in or near EFEMP1, BMP6, MIR129-2–HSD17B12, PRDM11, WWOX and KCNJ2. Two loci previously associated with spirometric measures (GSTCD and PTCH1) were related to FVC. Newly implicated regions were followed up in samples from African-American, Korean, Chinese and Hispanic individuals. We detected transcripts for all six newly implicated genes in human lung tissue. The new loci may inform mechanisms involved in lung development and the pathogenesis of restrictive lung disease.
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Accepted/In Press date: 22 May 2014
Published date: 15 June 2014
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Local EPrints ID: 494914
URI: http://eprints.soton.ac.uk/id/eprint/494914
ISSN: 1061-4036
PURE UUID: 19ea8069-7d89-43dc-ac0a-28d0c2ebdb9e
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Date deposited: 23 Oct 2024 16:32
Last modified: 26 Oct 2024 02:12
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Contributors
Author:
Alexessander Couto Alves
Author:
Daan W. Loth
Author:
María Soler Artigas
Author:
Sina A Gharib
Author:
Louise V. Wain
Corporate Author: et al.
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